Canonical Allele Identifier: CA007960
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150947373C>T
GRCh37 chr7:g.150644461C>T
Revel Score:
ENST00000330883 0.566
ENST00000392968 0.566
ENST00000262186 (MANE Select) 0.566
gnomAD v2:
7:150644461 C / T
gnomAD v3:
7:150947373 C / T
gnomAD v4:
chr7-150947373-C-T
Joint Max Group AF 0.0000937 (NFE)
Genomes Max Group AF 0.00012411 (NFE)
Exomes Max Group AF 0.00008791 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947373C>T , CM000669.2:g.150947373C>T GRCh38
NC_000007.13:g.150644461C>T , CM000669.1:g.150644461C>T GRCh37
NC_000007.12:g.150275394C>T NCBI36
NG_008916.1:g.35554G>A , LRG_288:g.35554G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3940G>A
ENST00000262186.10:c.3107G>A MANE Select ENSP00000262186.5:p.Gly1036Asp
ENST00000330883.9:c.2087G>A ENSP00000328531.4:p.Gly696Asp
ENST00000262186.9:c.3107G>A ENSP00000262186.5:p.Gly1036Asp
ENST00000330883.8:c.2087G>A ENSP00000328531.4:p.Gly696Asp
NM_000238.3:c.3107G>A , LRG_288t1:c.3107G>A NP_000229.1:p.Gly1036Asp
NM_172057.2:c.2087G>A , LRG_288t3:c.2087G>A NP_742054.1:p.Gly696Asp
XM_011516185.1:c.2807G>A XP_011514487.1:p.Gly936Asp
XM_011516185.2:c.2807G>A XP_011514487.1:p.Gly936Asp
XM_017012195.1:c.2957G>A XP_016867684.1:p.Gly986Asp
XM_017012196.1:c.2930G>A XP_016867685.1:p.Gly977Asp
NM_000238.4:c.3107G>A MANE Select NP_000229.1:p.Gly1036Asp
NM_172057.3:c.2087G>A NP_742054.1:p.Gly696Asp
Search 100 bp 5'
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